A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity.
Mol Cell Endocrinol
; 249(1-2): 51-7, 2006 Apr 25.
Article
em En
| MEDLINE
| ID: mdl-16517055
ABSTRACT
The proximal promoter of the human growth hormone gene (GH1) is highly polymorphic. We tested if promoter haplotypes differing at possibly functional sites, namely -278T/G (in the NF1 binding site), -75A/G (in the proximal Pit-1 binding site) and -57G/T (in the VDR binding site), induced a different luciferase activity when transfected in a rat pituitary cell line. The presence of a G instead of an A at position -75 induced a more than two-fold reduced activity (p<0.0001). In accordance with this findings the electrophoretic mobility shift assay demonstrated a reduced affinity of the -75G for the pituitary transcription factor Pit-1. Despite the strong effect of this polymorphism in vitro, the -75G variation was not associated to an impairment of the GH secretion in vivo.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Regulação da Expressão Gênica
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Regiões Promotoras Genéticas
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Hormônio do Crescimento Humano
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Fator de Transcrição Pit-1
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article